Bilateral Colobomas Affecting the Iris, Optic Nerve, Choroid, and Retina.

Optic Nerve Head Morphological Variation in Craniosynostosis: A Cohort Study.

TGFβ Signaling Dysregulation May Contribute to COL4A1-Related Glaucomatous Optic Nerve Damage.

In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome.

Peripapillary Hyperreflective Ovoid Mass-Like Structures in Stickler Syndrome.

A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects.